Details of Disease

General Information of Disease (ID: DIS8K8V4)

• Disease Name: Hereditary spastic paraplegia 11
• Synonyms: spastic paraplegia 11, autosomal recessive; spastic paraplegia 11; spastic paraplegia - intellectual deficit - thin corpus callosum; spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum; Nakamura Osame syndrome; spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum; hereditary spastic paraplegia mental impairment and thin corpus callosum; autosomal recessive spastic paraplegia type 11; hereditary spastic paraplegia caused by mutation in SPG11; SPG11 hereditary spastic paraplegia; hereditary spastic paraplegia type 11; Nakamura-Osame syndrome; HSP-TCC; autosomal recessive spastic paraplegia 11; autosomal recessive spastic paraplegia complicated with thin corpus callosum; autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum; spastic paraplegia-intellectual disability-thin corpus callosum syndrome; SPG11
• Definition: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DISGZQV1: Hereditary spastic paraplegia
  DIS8K8V4: Hereditary spastic paraplegia 11
• Disease Identifiers:
  MONDO ID: MONDO_0011445
  MESH ID: C537483
  UMLS CUI: C1858479
  OMIM ID: 604360
  MedGen ID: 388073
  Orphanet ID: 2822

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP13A2	OTKWBUGK	Strong	Genetic Variation	[1]
FBXO7	OTGTN8TJ	Strong	Genetic Variation	[1]
PANK1	OT2CZVRT	Strong	Genetic Variation	[1]
PRKRA	OTUTVZZU	Strong	Genetic Variation	[1]
SPG11	OTZ7LJX4	Definitive	Autosomal recessive	[2]

References

• [1] Rare causes of dystonia parkinsonism.Curr Neurol Neurosci Rep. 2010 Nov;10(6):431-9. doi: 10.1007/s11910-010-0136-0.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.